The present paper describes the conceptual basis of evidence-based classification of para-athletes with intellectual impairment (II). An extensive description of the theoretical and conceptual foundation of the system as currently conceived is provided, as are examples of its applications in the three sports included in the Paralympic programme for II-athletes in 2020 (i.e., athletics, swimming and table tennis). Evidence-based classification for II-athletes is driven by two central questions: i. How can intellectual impairment be substantiated in a valid and reliable way, and ii. Does intellectual impairment limit optimal sport proficiency? Evolution of the system and current best practice for addressing these questions are described, and suggestions for future research and development are provided. Challenges of understanding and assessing a complex (multifaceted and intersectional) impairment in the context of sport also are considered.
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http://dx.doi.org/10.1080/02640414.2021.1881280 | DOI Listing |
Epilepsia
January 2025
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Dianalund, Denmark.
Objectives: Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult-to-treat and early-onset seizures, developmental delay/intellectual disability, impaired quality of life, and increased risk of early mortality. High doses of sodium channel blockers are typically used to treat SCN8A-DEE caused by gain-of-function (GoF) variants. However, seizures are often drug resistant, and only a few patients achieve seizure freedom.
View Article and Find Full Text PDFActa Neurobiol Exp (Wars)
January 2025
Laboratory of Animal Models, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
The phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene is a critical tumor suppressor that plays an essential role in the development and functionality of the central nervous system. Located on chromosome 10 in humans and chromosome 19 in mice, PTEN encodes a protein that regulates cellular processes such as division, proliferation, growth, and survival by antagonizing the PI3K‑Akt‑mTOR signaling pathway. In neurons, PTEN dephosphorylates phosphatidylinositol‑3,4,5‑trisphosphate (PIP3) to PIP2, thereby modulating key signaling cascades involved in neurogenesis, neuronal migration, and synaptic plasticity.
View Article and Find Full Text PDFAlzheimers Dement
January 2025
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, USA.
Introduction: Alzheimer's disease (AD) in Down syndrome (DS) is associated with changes in brain structure. It is unknown if thickness and volumetric changes can identify AD stages and if they are similar to other genetic forms of AD.
Methods: Magnetic resonance imaging scans were collected for 178 DS adults (106 nonclinical, 45 preclinical, and 27 symptomatic).
Dev Med Child Neurol
January 2025
Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Aim: To quantify optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) morbidities and comorbidities.
Method: A retrospective population-based study with a case-control design was undertaken using administrative health data from Manitoba, Canada. Cases were 124 patients with ONH or SOD (70 males, 54 females; age range 6 months-36 years 8 months [mean 13 years, SD 7 years 2 months]) diagnosed from 1990 to 2019, matched to 620 unrelated population-based controls (350 males, 270 females; age range 0-36 years 8 months [mean 12 years 5 months, SD 7 years 2 months]) on birth year, sex, and area of residence.
Mol Biol Rep
January 2025
Institute of Health Sciences, Department of Medical and Surgical Research, Hacettepe University, Ankara, Turkey.
Background: La-related protein 7 (LARP7) is a key regulator of RNA metabolism and is thought to play a role in various cellular processes. LARP7 gene autosomal recessive mutations are the cause of Alazami syndrome, which presents with skeletal abnormalities, intellectual disabilities, and facial dysmorphisms. This study aimed to determine the role of LARP7 in modulating gene expression dynamics during osteogenesis.
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